Q71R (p.Gln71Arg) variant of APP (Amyloid-beta precursor protein)
Q71R (p.Gln71Arg) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Q71R (p.Gln71Arg) variant details
- p.Gln71Arg
- ExAC rs757264249
- TOPMed rs757264249
- gnomAD rs757264249
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.67
- CADD 24.10
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available